Kleinendorst Lotte, Sno Marthe, van Haelst Mieke M
Amsterdam UMC, Universiteit van Amsterdam, Klinische Genetica.
Contact: L. Kleinendorst (
Ned Tijdschr Geneeskd. 2019 Mar 21;163:D3441.
16p11.2 deletion syndrome is one of the most prevalent microdeletion syndromes in the world. Nevertheless, many doctors are not (yet) familiar with this syndrome. Prevalence has been estimated at approximately 3 in 10,000. The deletion can be identified in around 1 out of 100 people with autism. The syndrome is characterized by a wide range of phenotypic features including developmental delay, autism, obesity, increased head circumference, and epilepsy. Here we describe an 8-year-old female patient with developmental delay, autistic features and hyperphagia. After diagnosis of 16p11.2 deletion syndrome, her parents struggled due to limited information and support provision by healthcare staff. Since then, multidisciplinary healthcare has been introduced for this condition. In parallel, the patient's parents started an online support group for Dutch patients and parents. Given the diverse phenotype of 16p11.2 deletion syndrome, multidisciplinary collaboration is important. Establishing the diagnosis contributes to better treatment and understanding for parents and healthcare providers.
16p11.2缺失综合征是世界上最常见的微缺失综合征之一。然而，许多医生（目前）还不熟悉这种综合征。据估计，其患病率约为万分之三。在每100名自闭症患者中，约有1人可检测出该缺失。该综合征具有广泛的表型特征，包括发育迟缓、自闭症、肥胖、头围增大和癫痫。在此，我们描述一名8岁女性患者，她存在发育迟缓、自闭症特征和食欲亢进。在诊断为16p11.2缺失综合征后，由于医护人员提供的信息和支持有限，她的父母陷入了困境。从那时起，针对这种疾病引入了多学科医疗服务。与此同时，患者的父母为荷兰患者及家长创建了一个在线支持小组。鉴于16p11.2缺失综合征的表型多样，多学科协作很重要。明确诊断有助于为家长和医护人员提供更好的治疗和理解。
